منابع مشابه
Genetic testing in clinical endocrinology.
Mendelian disease (due to disruption of a single gene) will be dealt with first as it accounts for a considerable proportion of endocrine disorders, represents the simplest and best understood instance of the contribution of genetics to endocrinology, and has given rise to routine diagnostics already available to clinicians. Complex disorders, depending on the interaction of environmental facto...
متن کاملLaboratory Genetic Testing in Clinical Practice 2016
The genetic testing in various clinical conditions emerges to have an important role in both diagnosis and treatment. Recently, a revolution in genomic technologies from the first-generation Sanger method to next-generation high through-put sequencing and microarrays has occurred. All of these technologies have been widely applied for genome, exome, transcriptome sequencing, and epigenomics. Th...
متن کاملLaboratory Genetic Testing in Clinical Practice
1 Division of Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey 2Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100 Bornova, Turkey 3 Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, 34457 Istanbul, Turkey 4Cytogenetics &Molecular Genetics Laboratories, Institute of GenomicMedicin...
متن کاملLaboratory Genetic Testing in Clinical Practice 2014
The laboratory genetic testing is rapidly emerging in clinical practice. Recently, in parallel with the report of human genome project, next generation sequencing techniques are widely applied to study human genome providing a basis for integrating information about genome, exome, and transcriptome of a living organism. The future applications of genetic testing are discussed in popularmedia ev...
متن کاملClinical rationale of genetic testing in dementia.
The genetic component of some cases of dementia has long been recognised. In 1987 a locus on chromosome 21 was found to be associated with a very aggressive form of Alzheimer's disease with a strong familial transmission (autosomal dominant inheritance).' Four years later the defect was identified in a point mutation of the amyloid precursor protein encoding gene.2 Members of families carrying ...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 2008
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.97.2920